ClinVar Miner

Submissions for variant NM_015268.4(DNAJC13):c.3872A>G (p.Glu1291Gly)

gnomAD frequency: 0.00396  dbSNP: rs61748101
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000887960 SCV001031559 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000987334 SCV001136602 likely benign Parkinson disease 21 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000887960 SCV001156225 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing DNAJC13: BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000887960 SCV001809570 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000887960 SCV001967191 likely benign not provided no assertion criteria provided clinical testing

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